| 基因名 | 突变 |
|---|---|
| CST2(NM_001322,cystatin SA,141aa) | g.20:23805858C>T,c.331G>A,p.E111K |
| CST2(NM_001322,cystatin SA,141aa) | g.20:23804722G>C,c.361C>G,p.Q121E |
| CST2(NM_001322,cystatin SA,141aa) | g.20:23804663T>A,c.420A>T,p.E140D |
| CST2(NM_001322,cystatin SA,141aa) | g.20:23804662C>T,c.421G>A,p.A141T |
| CST1(NM_001898,cystatin SN,141aa) | g.20:23731494A>G,c.10T>C,p.Y4H |
| CST1(NM_001898,cystatin SN,141aa) | g.20:23731412G>A,c.92C>T,p.P31L |
| CST1(NM_001898,cystatin SN,141aa) | g.20:23731389G>C,c.115C>G,p.L39V |
| CST1(NM_001898,cystatin SN,141aa) | g.20:23731385T>C,c.119A>G,p.N40S |
| CST1(NM_001898,cystatin SN,141aa) | g.20:23731308G>A,c.196C>T,p.R66C |
| CST1(NM_001898,cystatin SN,141aa) | g.20:23731298C>T,c.206G>A,p.R69Q |
| CST1(NM_001898,cystatin SN,141aa) | g.20:23729763C>T,c.232G>A,p.V78I |
| CST1(NM_001898,cystatin SN,141aa) | g.20:23729763C>A,c.232G>T,p.V78F |
| CST1(NM_001898,cystatin SN,141aa) | g.20:23729759C>G,c.236G>C,p.G79A |
| CST1(NM_001898,cystatin SN,141aa) | g.20:23728518C>T,c.361G>A,p.E121K |
| CST11(NM_130794,cystatin 11,138aa) | g.20:23433388C>G,c.61G>C,p.A21P |
| CST11(NM_130794,cystatin 11,138aa) | g.20:23433250T>C,c.199A>G,p.I67V |
| CST11(NM_130794,cystatin 11,138aa) | g.20:23433244G>A,c.205C>T,p.R69X |
| CST11(NM_130794,cystatin 11,138aa) | g.20:23433232C>T,c.217G>A,p.V73I |
| CST11(NM_130794,cystatin 11,138aa) | g.20:23432541T>G,c.245A>C,p.E82A |
| CSRP3(NM_003476,cysteine and glycine-rich protein 3 (cardiac LIM protein),194aa) | g.11:19213986A>G,c.10T>C,p.W4R |
| CSRP3(NM_003476,cysteine and glycine-rich protein 3 (cardiac LIM protein),194aa) | g.11:19213980C>T,c.16G>A,p.G6R |
| CSRP3(NM_003476,cysteine and glycine-rich protein 3 (cardiac LIM protein),194aa) | g.11:19207878C>T,c.299G>A,p.R100H |
| CSRP3(NM_003476,cysteine and glycine-rich protein 3 (cardiac LIM protein),194aa) | g.11:19207841C>T,c.336G>A,p.A112A |
| CSRP2(NM_001321,cysteine and glycine-rich protein 2,193aa) | g.12:77256986C>T,c.251G>A,p.R84H |
| CSRP2BP(NM_020536,CSRP2 binding protein,782aa) | g.20:18163820C>T,c.1862C>T,p.S621F |
| CSRP2BP(NM_020536,CSRP2 binding protein,782aa) | g.20:18163817G>A,c.1859G>A,p.R620H |
| CSRP2BP(NM_020536,CSRP2 binding protein,782aa) | g.20:18162481C>G,c.1799C>G,p.P600R |
| CSRP2BP(NM_020536,CSRP2 binding protein,782aa) | g.20:18162405T>A,c.1723T>A,p.Y575N |